Works matching IS 1756994X AND DT 2024 AND VI 16 AND IP 1

Results: 152
    1

    Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01423-3
    By:
    • Drackley, A.;
    • Somerville, C.;
    • Arnaud, P.;
    • Baudhuin, L. M.;
    • Hanna, N.;
    • Kluge, M. L.;
    • Kotzer, K.;
    • Boileau, C.;
    • Bronicki, L.;
    • Callewaert, B.;
    • Cecchi, A.;
    • Dietz, H.;
    • Guo, D.;
    • Harris, S.;
    • Jarinova, O.;
    • Lindsay, M.;
    • Little, L.;
    • Loeys, B.;
    • MacCarrick, G.;
    • Meester, J.
    Publication type:
    Article
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    Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01424-2
    By:
    • Nguyen, Minh Ngoc;
    • Gladstone, Beryl Primrose;
    • De Angelis, Giulia;
    • Biggel, Michael;
    • Xavier, Basil Britto;
    • Lammens, Christine;
    • Lin, Qiang;
    • Van Puyvelde, Sandra;
    • Goossens, Herman;
    • Kumar-Singh, Samir;
    • Glupczynski, Youri;
    • Carmeli, Yehuda;
    • Tacconelli, Evelina;
    • Malhotra-Kumar, Surbhi;
    • Harbarth, Stephan;
    • Schrenzel, Jacques;
    • Restuccia, Giovanni;
    • Venturiello, Silvia;
    • Cauda, Roberto;
    • Percia, Shimrit
    Publication type:
    Article
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    Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01411-7
    By:
    • Pehlivan, Davut;
    • Bengtsson, Jesse D.;
    • Bajikar, Sameer S.;
    • Grochowski, Christopher M.;
    • Lun, Ming Yin;
    • Gandhi, Mira;
    • Jolly, Angad;
    • Trostle, Alexander J.;
    • Harris, Holly K.;
    • Suter, Bernhard;
    • Aras, Sukru;
    • Ramocki, Melissa B.;
    • Du, Haowei;
    • Mehaffey, Michele G.;
    • Park, KyungHee;
    • Wilkey, Ellen;
    • Karakas, Cemal;
    • Eisfeldt, Jesper J.;
    • Pettersson, Maria;
    • Liu, Lynn
    Publication type:
    Article
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    Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01417-1
    By:
    • Katrinli, Seyma;
    • Wani, Agaz H.;
    • Maihofer, Adam X.;
    • Ratanatharathorn, Andrew;
    • Daskalakis, Nikolaos P.;
    • Montalvo-Ortiz, Janitza;
    • Núñez-Ríos, Diana L.;
    • Zannas, Anthony S.;
    • Zhao, Xiang;
    • Aiello, Allison E.;
    • Ashley-Koch, Allison E.;
    • Avetyan, Diana;
    • Baker, Dewleen G.;
    • Beckham, Jean C.;
    • Boks, Marco P.;
    • Brick, Leslie A.;
    • Bromet, Evelyn;
    • Champagne, Frances A.;
    • Chen, Chia-Yen;
    • Dalvie, Shareefa
    Publication type:
    Article
    9

    Patterns of genomic instability in > 2000 patients with ovarian cancer across six clinical trials evaluating olaparib.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01413-5
    By:
    • Barnicle, Alan;
    • Ray-Coquard, Isabelle;
    • Rouleau, Etienne;
    • Cadoo, Karen;
    • Simpkins, Fiona;
    • Aghajanian, Carol;
    • Leary, Alexandra;
    • Poveda, Andrés;
    • Lheureux, Stephanie;
    • Pujade-Lauraine, Eric;
    • You, Benoit;
    • Ledermann, Jonathan;
    • Matulonis, Ursula;
    • Gourley, Charlie;
    • Timms, Kirsten M.;
    • Lai, Zhongwu;
    • Hodgson, Darren R.;
    • Elks, Cathy E.;
    • Dearden, Simon;
    • Egile, Coumaran
    Publication type:
    Article
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    Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01401-9
    By:
    • Takemon, Yuka;
    • Pleasance, Erin D.;
    • Gagliardi, Alessia;
    • Hughes, Christopher S.;
    • Csizmok, Veronika;
    • Wee, Kathleen;
    • Trinh, Diane L.;
    • Huff, Ryan D.;
    • Mungall, Andrew J.;
    • Moore, Richard A.;
    • Chuah, Eric;
    • Mungall, Karen L.;
    • Lewis, Eleanor;
    • Nelson, Jessica;
    • Lim, Howard J.;
    • Renouf, Daniel J.;
    • Jones, Steven JM.;
    • Laskin, Janessa;
    • Marra, Marco A.
    Publication type:
    Article
    12

    Revisiting mutational resistance to ampicillin and cefotaxime in Haemophilus influenzae.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01406-4
    By:
    • Diricks, Margo;
    • Petersen, Sabine;
    • Bartels, Lennart;
    • Lâm, Thiên-Trí;
    • Claus, Heike;
    • Bajanca-Lavado, Maria Paula;
    • Hauswaldt, Susanne;
    • Stolze, Ricardo;
    • Vázquez, Omar Jiménez;
    • Utpatel, Christian;
    • Niemann, Stefan;
    • Rupp, Jan;
    • Wohlers, Inken;
    • Merker, Matthias
    Publication type:
    Article
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    Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01392-7
    By:
    • Dawood, Moez;
    • Fayer, Shawn;
    • Pendyala, Sriram;
    • Post, Mason;
    • Kalra, Divya;
    • Patterson, Karynne;
    • Venner, Eric;
    • Muffley, Lara A.;
    • Fowler, Douglas M.;
    • Rubin, Alan F.;
    • Posey, Jennifer E.;
    • Plon, Sharon E.;
    • Lupski, James R.;
    • Gibbs, Richard A.;
    • Starita, Lea M.;
    • Robles-Espinoza, Carla Daniela;
    • Coyote-Maestas, Willow;
    • Gallego Romero, Irene
    Publication type:
    Article
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    Genomic surveillance of multidrug-resistant organisms based on long-read sequencing.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01412-6
    By:
    • Landman, Fabian;
    • Jamin, Casper;
    • de Haan, Angela;
    • Witteveen, Sandra;
    • Bos, Jeroen;
    • van der Heide, Han G. J.;
    • Schouls, Leo M.;
    • Hendrickx, Antoni P. A.;
    • Dutch CPE/MRSA surveillance study group;
    • van Arkel, A. L. E.;
    • Leversteijn-van Hall, M. A.;
    • den Bijllaardt, W. van den;
    • van Mansfeld, R.;
    • van Dijk, K.;
    • Zwart, B.;
    • Diederen, B. M. W.;
    • Berkhout, H.;
    • Notermans, D. W.;
    • Ott, A.;
    • Waar, K.
    Publication type:
    Article
    20

    Epigenetic age and long-term cancer risk following a stroke.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01408-2
    By:
    • Suárez-Pérez, Antoni;
    • Macias-Gómez, Adrià;
    • Fernández-Pérez, Isabel;
    • Vallverdú-Prats, Marta;
    • Cuadrado-Godia, Elisa;
    • Giralt-Steinhauer, Eva;
    • Campanale, Maia;
    • Guisado-Alonso, Daniel;
    • Rodríguez-Campello, Ana;
    • Jiménez-Balado, Joan;
    • Jiménez-Conde, Jordi;
    • Ois, Angel
    Publication type:
    Article
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    Integrated analyses of multi-omic data derived from paired primary lung cancer and brain metastasis reveal the metabolic vulnerability as a novel therapeutic target.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01410-8
    By:
    • Duan, Hao;
    • Ren, Jianlan;
    • Wei, Shiyou;
    • Yang, Zhenyu;
    • Li, Chuan;
    • Wang, Zhenning;
    • Li, Meichen;
    • Wei, Zhi;
    • Liu, Yu;
    • Wang, Xiuqi;
    • Lan, Hongbin;
    • Zeng, Zhen;
    • Xie, Maodi;
    • Xie, Yuan;
    • Wu, Suwen;
    • Hu, Wanming;
    • Guo, Chengcheng;
    • Zhang, Xiangheng;
    • Liang, Lun;
    • Yu, Chengwei
    Publication type:
    Article
    24

    Neoantigen DNA vaccines are safe, feasible, and induce neoantigen-specific immune responses in triple-negative breast cancer patients.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01388-3
    By:
    • Zhang, Xiuli;
    • Goedegebuure, S. Peter;
    • Chen, Michael Y.;
    • Mishra, Rashmi;
    • Zhang, Felicia;
    • Yu, Yik Yeung;
    • Singhal, Kartik;
    • Li, Lijin;
    • Gao, Feng;
    • Myers, Nancy B.;
    • Vickery, Tammi;
    • Hundal, Jasreet;
    • McLellan, Michael D.;
    • Sturmoski, Mark A.;
    • Kim, Samuel W.;
    • Chen, Ina;
    • Davidson 4th, Jesse T.;
    • Sankpal, Narendra V.;
    • Myles, Stephanie;
    • Suresh, Rama
    Publication type:
    Article
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    Exploring multi-omics and clinical characteristics linked to accelerated biological aging in Asian women of reproductive age: insights from the S-PRESTO study.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01403-7
    By:
    • Chen, Li;
    • Tan, Karen Mei-Ling;
    • Xu, Jia;
    • Mishra, Priti;
    • Mir, Sartaj Ahmad;
    • Gong, Min;
    • Narasimhan, Kothandaraman;
    • Ng, Bryan;
    • Lai, Jun Shi;
    • Tint, Mya Thway;
    • Cai, Shirong;
    • Sadananthan, Suresh Anand;
    • Michael, Navin;
    • Yaligar, Jadegoud;
    • Velan, Sambasivam Sendhil;
    • Leow, Melvin Khee Shing;
    • Tan, Kok Hian;
    • Chan, Jerry;
    • Meaney, Michael J.;
    • Chan, Shiao-Yng
    Publication type:
    Article
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    Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01354-z
    By:
    • Knikman, Jonathan E.;
    • Zhai, Qinglian;
    • Lunenburg, Carin A. T. C.;
    • Henricks, Linda M.;
    • Böhringer, Stefan;
    • van der Lee, Maaike;
    • de Man, Femke M.;
    • Offer, Steven M.;
    • Shrestha, Shikshya;
    • Creemers, Geert-Jan;
    • Baars, Arnold;
    • Dezentjé, Vincent O.;
    • Imholz, Alexander L. T.;
    • Jeurissen, Frank J. F.;
    • Portielje, Johanna E. A.;
    • Jansen, Rob L. H.;
    • Hamberg, Paul;
    • Droogendijk, Helga J.;
    • Koopman, Miriam;
    • Nieboer, Peter
    Publication type:
    Article
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    A validated heart-specific model for splice-disrupting variants in childhood heart disease.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01383-8
    By:
    • Lesurf, Robert;
    • Breckpot, Jeroen;
    • Bouwmeester, Jade;
    • Hanafi, Nour;
    • Jain, Anjali;
    • Liang, Yijing;
    • Papaz, Tanya;
    • Lougheed, Jane;
    • Mondal, Tapas;
    • Alsalehi, Mahmoud;
    • Altamirano-Diaz, Luis;
    • Oechslin, Erwin;
    • Audain, Enrique;
    • Dombrowsky, Gregor;
    • Postma, Alex V.;
    • Woudstra, Odilia I.;
    • Bouma, Berto J.;
    • Hitz, Marc-Phillip;
    • Bezzina, Connie R.;
    • Blue, Gillian M.
    Publication type:
    Article
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    DNA demethylation triggers cell free DNA release in colorectal cancer cells.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01386-5
    By:
    • Pessei, Valeria;
    • Macagno, Marco;
    • Mariella, Elisa;
    • Congiusta, Noemi;
    • Battaglieri, Vittorio;
    • Battuello, Paolo;
    • Viviani, Marco;
    • Gionfriddo, Giulia;
    • Lamba, Simona;
    • Lorenzato, Annalisa;
    • Oddo, Daniele;
    • Idrees, Fariha;
    • Cavaliere, Alessandro;
    • Bartolini, Alice;
    • Guarrera, Simonetta;
    • Linnebacher, Michael;
    • Monteonofrio, Laura;
    • Cardone, Luca;
    • Milella, Michele;
    • Bertotti, Andrea
    Publication type:
    Article
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    Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01385-6
    By:
    • Kim, Soo-Whee;
    • Lee, Hyeji;
    • Song, Da Yea;
    • Lee, Gang-Hee;
    • Ji, Jungeun;
    • Park, Jung Woo;
    • Han, Jae Hyun;
    • Lee, Jee Won;
    • Byun, Hee Jung;
    • Son, Ji Hyun;
    • Kim, Ye Rim;
    • Lee, Yoojeong;
    • Kim, Jaewon;
    • Jung, Ashish;
    • Lee, Junehawk;
    • Kim, Eunha;
    • Kim, So Hyun;
    • Lee, Jeong Ho;
    • Satterstrom, F. Kyle;
    • Girirajan, Santhosh
    Publication type:
    Article
    47

    Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01378-5
    By:
    • Daly, Adrian F.;
    • Dunnington, Leslie A.;
    • Rodriguez-Buritica, David F.;
    • Spiegel, Erica;
    • Brancati, Francesco;
    • Mantovani, Giovanna;
    • Rawal, Vandana M.;
    • Faucz, Fabio Rueda;
    • Hijazi, Hadia;
    • Caberg, Jean-Hubert;
    • Nardone, Anna Maria;
    • Bengala, Mario;
    • Fortugno, Paola;
    • Del Sindaco, Giulia;
    • Ragonese, Marta;
    • Gould, Helen;
    • Cannavò, Salvatore;
    • Pétrossians, Patrick;
    • Lania, Andrea;
    • Lupski, James R.
    Publication type:
    Article
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